Comparative genomic analysis of esophageal squamous cell carcinoma between Asian and Caucasian patient populations

Jiaying Deng, Hu Chen, Daizhan Zhou, Junhua Zhang, Yun Chen, Qi Liu, Dashan Ai, Hanting Zhu, Li Chu, Wenjia Ren, Xiaofei Zhang, Yi Xia, Menghong Sun, Huiwen Zhang, Jun Li, Xinxin Peng, Liang Li, Leng Han, Hui Lin, Xiujun Cai, Jiaqing Xiang, Shufeng Chen, Yihua Sun, Yawei Zhang, Jie Zhang, Haiquan Chen, Shijian Zhang, Yi Zhao, Yun Liu (), Han Liang () and Kuaile Zhao ()
Additional contact information
Jiaying Deng: Fudan University Shanghai Cancer Center
Hu Chen: Baylor College of Medicine
Daizhan Zhou: Zhejiang University School of Medicine
Junhua Zhang: Fudan University Shanghai Cancer Center
Yun Chen: Fudan University Shanghai Cancer Center
Qi Liu: Fudan University Shanghai Cancer Center
Dashan Ai: Fudan University Shanghai Cancer Center
Hanting Zhu: Fudan University Shanghai Cancer Center
Li Chu: Fudan University Shanghai Cancer Center
Wenjia Ren: Fudan University Shanghai Cancer Center
Xiaofei Zhang: Fudan University Shanghai Cancer Center
Yi Xia: Fudan University Shanghai Cancer Center
Menghong Sun: Fudan University
Huiwen Zhang: The University of Texas Health Science Center at Houston McGovern Medical School
Jun Li: The University of Texas MD Anderson Cancer Center
Xinxin Peng: The University of Texas MD Anderson Cancer Center
Liang Li: The University of Texas MD Anderson Cancer Center
Leng Han: The University of Texas Health Science Center at Houston McGovern Medical School
Hui Lin: Zhejiang University School of Medicine
Xiujun Cai: Zhejiang University School of Medicine
Jiaqing Xiang: Fudan University Shanghai Cancer Center
Shufeng Chen: Fudan University Shanghai Cancer Center
Yihua Sun: Fudan University Shanghai Cancer Center
Yawei Zhang: Fudan University Shanghai Cancer Center
Jie Zhang: Fudan University Shanghai Cancer Center
Haiquan Chen: Fudan University Shanghai Cancer Center
Shijian Zhang: Precision Scientific (Beijing) Co., Ltd
Yi Zhao: Precision Scientific (Beijing) Co., Ltd
Yun Liu: Fudan University
Han Liang: Baylor College of Medicine
Kuaile Zhao: Fudan University Shanghai Cancer Center

Nature Communications, 2017, vol. 8, issue 1, 1-9

Abstract: Abstract Esophageal squamous cell carcinoma is a major histological type of esophageal cancer, with distinct incidence and survival patterns among races. Although previous studies have characterized somatic mutations in this disease, a rigorous comparison between different patient populations has not been conducted. Here we sequence the samples of 316 Chinese patients, combine them with those from The Cancer Genome Atlas, and perform a comparative analysis between Asian and Caucasian patients. We find that mutated CSMD3 is associated with better prognosis in Asian patients. Applying a robust computational strategy that adjusts for both technical and biological confounding factors, we find that TP53, EP300, and NFE2L2 show higher mutational frequencies in Asian patients. Moreover, NFE2L2 mutations correlate with the allele status of a nearby high-Fst SNP, suggesting their potential interaction. Our study provides insights into the molecular basis underlying the striking racial disparities of this disease, and represents a general computational framework for such a cross-population comparison.

Date: 2017
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DOI: 10.1038/s41467-017-01730-x

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